Summary:

NameNeuro-developmental disorder (C:m5C)
DescriptionLoss of m5C causes the accumulation of tRNA fragments in the absence of NSUN2. Therefore, reduction in protein translation rates and activation in stress pathways leading to reduced cell size and increased apoptosis of cortical, hippocampal, and striatal neurons occurred.
Related RNA reactionC:m5C
Found in RNAtRNA
Modified TranscriptNone
Mapping TechnologytRNA-seq,ChIP-seq, Bisulphite-seq
Quantification techniquesqPCR

Enzymes connected to this disease:

Acronym Full name Enzyme Role Organism
NSUN2 NOP2/Sun RNA methyltransferase 2 None Homo sapiens
 

Publications:

ID Title Authors Journal Details PubMed Id DOI
1084 Aberrant methylation of tRNAs links cellular stress to neuro-developmental disorders. Sandra Blanco EMBO J [details] 25063673 10.15252/embj.201489282

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